Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment.
Hechmi M, Charif M, Kraoua I, Fassatoui M, Dallali H, Desquiret-Dumas V, Bris C, Goudenège D, Drissi C, Galaï S, Ouerhani S, Procaccio V, Amati-Bonneau P, Abdelhak S, Ben Youssef-Turki I, Lenaers G, Kefi R.
Hechmi M, et al. Among authors: bris c.
Biosci Rep. 2022 Sep 30;42(9):BSR20220194. doi: 10.1042/BSR20220194.
Biosci Rep. 2022.
PMID: 36093993
Free PMC article.
A single m.10197G>A (p.Ala47Thr) variant was found in the mitochondrial MT-ND3 gene in one patient, while the others were related to autosomal homozygous variants: two c.1412delA (p.Gln471ArgfsTer42) and c.1264A>G (p.Thr422Ala) in SLC19A3, one c.454C> …
A single m.10197G>A (p.Ala47Thr) variant was found in the mitochondrial MT-ND3 gene in one patient, while the others were related to auto …